Canonical Allele Identifier: CA2676746821

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177604292-GGGACGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604295_177604300del , CM000667.2:g.177604295_177604300del	GRCh38
NC_000005.9:g.177031296_177031301del , CM000667.1:g.177031296_177031301del	GRCh37
NC_000005.8:g.176963902_176963907del	NCBI36
NG_015977.1:g.9178_9183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.167_172del MANE Select	ENSP00000029410.5:p.Asp56_Val57del
ENST00000029410.9:c.167_172del	ENSP00000029410.5:p.Asp56_Val57del
ENST00000502420.1:n.146_151del
ENST00000505433.5:c.167_172del	ENSP00000425591.1:p.Asp56_Val57del
ENST00000505468.1:c.-176_-171del	ENSP00000420886.1:n.-176_-171del
ENST00000510761.1:c.-176_-171del	ENSP00000423438.1:n.-176_-171del
NM_007255.2:c.167_172del	NP_009186.1:p.Asp56_Val57del
XM_005265805.2:c.-176_-171del	XP_005265862.1:n.-176_-171del
XM_006714816.2:c.-333_-328del	XP_006714879.1:n.-333_-328del
XM_011534421.1:c.-176_-171del	XP_011532723.1:n.-176_-171del
XM_006714816.4:c.-333_-328del	XP_006714879.1:n.-333_-328del
XM_017008999.2:c.-176_-171del	XP_016864488.1:n.-176_-171del
NM_007255.3:c.167_172del MANE Select	NP_009186.1:p.Asp56_Val57del